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Variant : CV502119 (NM_000722.4(CACNA2D1):c.1441-12C>G) Homo sapiens

Symbol: CV502119
Name: NM_000722.4(CACNA2D1):c.1441-12C>G
Condition: not specified [RCV000601174]
Clinical Significance: likely benign
Last Evaluated: 11/27/2017
Review Status: criteria provided, single submitter
Related Genes: CACNA2D1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_009358.2:g.442865C>G
NC_000007.13:g.81635167G>C
LRG_437:g.442865C>G
NC_000007.14:g.82005851G>C
NM_000722.2:c.1441-12C>G
LRG_437t1:c.1441-12C>G
NM_000722.4:c.1441-12C>G
NM_001366867.1:c.1441-12C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,005,851 - 82,005,851CLINVAR
GRCh37781,635,167 - 81,635,167CLINVAR
Cytogenetic Map77q21.11CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13531823
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.